PAMI Syndrome: Two Cases of an Autoinflammatory Disease with an ALPS-Like Phenotype
Author:
Publisher
Springer Science and Business Media LLC
Subject
Immunology,Immunology and Allergy
Link
https://link.springer.com/content/pdf/10.1007/s10875-022-01265-x.pdf
Reference5 articles.
1. Demidowich AP, et al. Genotype, phenotype, and clinical course in five patients with PAPA syndrome (pyogenic sterile arthritis, pyoderma gangrenosum, and acne). Arthritis Rheum. 2012;64(6):2022–7. https://doi.org/10.1002/art.34332.
2. Marzano AV, Borghi A, Meroni PL, Cugno M. Pyoderma gangrenosum and its syndromic forms: evidence for a link with autoinflammation. Br J Dermatol. 2016;175(5):882–91. https://doi.org/10.1111/bjd.14691.
3. Holzinger D, et al. Single amino acid charge switch defines clinically distinct proline-serine-threonine phosphatase-interacting protein 1 (PSTPIP1)-associated inflammatory diseases. J Allergy Clin Immunol. 2015;136(5):1337–45. https://doi.org/10.1016/j.jaci.2015.04.016.
4. Takagi M et al. (2018) Genetic heterogeneity of uncharacterized childhood autoimmune diseases with lymphoproliferation. Pediatric Blood Cancer 65(2)
5. Shoham NG, et al. Pyrin binds the PSTPIP1/CD2BP1 protein, defining familial Mediterranean fever and PAPA syndrome as disorders in the same pathway. Proc Natl Acad Sci U S A. 2003;100(23):13501–6. https://doi.org/10.1073/pnas.2135380100.
Cited by 4 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. PSTPIP1‐associated myeloid‐related proteinemia inflammatory (PAMI) syndrome: A case report and review of the literature;Pediatric Dermatology;2024-07-05
2. PSTPIP1-associated myeloid-related proteinemia inflammatory (PAMI) syndrome: a case of relapsed episodes of gastrointestinal inflammation and literature review;Journal of Clinical Pathology;2024-05-15
3. PSTPIP1-Associated Myeloid-Related Proteinemia Inflammatory (PAMI) Syndrome: A Systematic Review;Genes;2023-08-19
4. Strong inflammatory signatures in the neutrophils of PAMI syndrome;Frontiers in Immunology;2022-09-20
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